Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.917 12 2013 2019
dbSNP: rs2230926
rs2230926
TNFAIP3
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.040 1.000 4 2013 2019
dbSNP: rs1057519781
rs1057519781
ALK
9 0.807 0.160 2 29209816 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs121913503
rs121913503
IDH2
23 0.689 0.200 15 90088606 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1353428252
rs1353428252
IDH2
5 0.851 0.120 15 90088681 missense variant A/C snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs138228187
rs138228187
TIRAP
3 0.925 0.120 11 126292650 missense variant C/T snv 4.0E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs3099844
rs3099844
MICB-DT
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs2231231
rs2231231
AQP3
5 0.851 0.240 9 33442988 non coding transcript exon variant A/C snv 0.67 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2274084
rs2274084
GJB2
6 0.882 0.240 13 20189503 missense variant C/T snv 5.4E-02 2.2E-02 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2004 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2004 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.333 3 2004 2017
dbSNP: rs11540652
rs11540652
TP53
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.720 1.000 2 2013 2017
dbSNP: rs1042752
rs1042752
POU2AF1
3 0.925 0.120 11 111352386 3 prime UTR variant A/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2017 2017
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs9461776
rs9461776
HLA-DRB1
11 0.763 0.240 6 32607958 intergenic variant A/G snv 8.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs267601394
rs267601394
EZH2
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.720 1.000 4 2012 2016
dbSNP: rs879253942
rs879253942
TP53
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.030 1.000 3 2012 2015
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.030 1.000 3 2012 2015
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2013 2015
dbSNP: rs2395185
rs2395185
HLA-DRB9
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.010 1.000 1 2015 2015